title: Acute megakaryoblastic leukemia with a four-way variant translocation originating the RBM15-MKL1 fusion gene.
abstract: Acute megakaryoblastic leukemia (AMKL) with t(1;22)(p13;q13) is a subset of acute myeloid leukemia (AML) representing <1% of all cases and about 70% of pediatric AMKL in the first year of life. We present a case of a 7-month-old female in whom the bone marrow karyotype showed the derivative chromosome der(22)t(1;22)(p13;q13). The RBM15-MKL1 fusion transcript was detected by RT-PCR and confirmed by sequencing analyses. FISH analyses revealed the presence of the four-way translocation t(1;22;17;18)(p13;q13;q22;q12).
authors.affiliation: Department of Genetics, Portuguese Oncology Institute, Porto, Portugal.
authors.forename: Lurdes
authors.initials: L
authors.lastname: Torres
authors.forename: Susana
authors.initials: S
authors.lastname: Lisboa
authors.forename: Joana
authors.initials: J
authors.lastname: Vieira
authors.forename: Nuno
authors.initials: N
authors.lastname: Cerveira
authors.forename: Joana
authors.initials: J
authors.lastname: Santos
authors.forename: Manuela
authors.initials: M
authors.lastname: Pinheiro
authors.forename: Cecília
authors.initials: C
authors.lastname: Correia
authors.forename: Susana
authors.initials: S
authors.lastname: Bizarro
authors.forename: Marta
authors.initials: M
authors.lastname: Almeida
authors.forename: Manuel R
authors.initials: MR
authors.lastname: Teixeira
mesh_terms: D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D007947:Leukemia, Megakaryoblastic, Acute / Q000235:genetics* / Q000473:pathology; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: C532421:OTT-MAL fusion protein, human; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger